Craniofacial Dysmorphology in 22q11.2 Deletion Syndrome by 3D
Laser Surface Imaging and Geometric Morphometrics: Illuminating
the Developmental Relationship to Risk for Psychosis

J 2015

Craniofacial Dysmorphology in 22q11.2 Deletion Syndrome by 3D Laser Surface Imaging and Geometric Morphometrics: Illuminating the Developmental Relationship to Risk for Psychosis

PRASAD, Sarah, Stanislav KATINA, Robin J. HENNESSY, Kieran C. MURPHY, Adrian W. BOWMAN et. al.

Základní údaje

Originální název

Craniofacial Dysmorphology in 22q11.2 Deletion Syndrome by 3D Laser Surface Imaging and Geometric Morphometrics: Illuminating the Developmental Relationship to Risk for Psychosis

Autoři

PRASAD, Sarah (372 Irsko), Stanislav KATINA (703 Slovensko, garant, domácí), Robin J. HENNESSY (372 Irsko), Kieran C. MURPHY (372 Irsko), Adrian W. BOWMAN (826 Velká Británie a Severní Irsko) a John L. WADDINGTON (372 Irsko)

Vydání

American Journal of Medical Genetics Part A, Malden, MA, USA, Wiley, 2015, 1552-4825

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

10103 Statistics and probability

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.082

Kód RIV

RIV/00216224:14310/15:00082396

Organizační jednotka

Přírodovědecká fakulta

DOI

http://dx.doi.org/10.1002/ajmg.a.36893

UT WoS

000350283400007

Klíčová slova anglicky

22q11.2 deletion syndrome; velocardiofacial syndrome; schizophrenia; craniofacial dysmorphology; 3D laser surface imaging; geometric morphometrics

Štítky

AKR, rivok

Změněno: 20. 10. 2018 09:51, doc. PaedDr. RNDr. Stanislav Katina, Ph.D.

Anotace

V originále

Persons with 22q11.2 deletion syndrome (22q11.2DS) are characterized inter alia by facial dysmorphology and greatly increased risk for psychotic illness. Recent studies indicate facial dysmorphology in adults with schizophrenia. This study evaluates the extent to which the facial dysmorphology of 22q11.2DS is similar to or different from that evident in schizophrenia. Twenty-one 22q11.2DS-sibling control pairs were assessed using 3Dlaser surface imaging.Geometricmorphometrics was applied to 30 anatomical landmarks, 480 geometrically homologous semi-landmarks on curves and 1720 semi-landmarks interpolated on each 3D facial surface. Principal component (PC) analysis of overall shape space indicated PC2 to strongly distinguish 22q11.2DS from controls. Visualization of PC2 indicated 22q11.2DS and schizophrenia to be similar in terms of overall widening of the upper face, lateral displacement of the eyes/ orbits, prominence of the cheeks, narrowing of the lower face, narrowing of nasal prominences and posterior displacement of the chin; they differed in terms of facial length (increased in 22q11.2DS, decreased in schizophrenia), mid-face and nasal prominences (displaced upwards and outwards in 22q11.2DS, less prominent in schizophrenia); lips (more prominent in 22q11.2DS; less prominent in schizophrenia) and mouth (open mouth posture in 22q11.2DS; closed mouth posture in schizophrenia). These findings directly implicate dysmorphogenesis in a cerebral-craniofacial domain that is common to 22q11.2DS and schizophrenia and which may repay further clinical and genetic interrogation in relation to the developmental origins of psychotic illness.

Návaznosti

CZ.1.07/2.2.00/15.0203, interní kód MU

Název: Univerzitní výuka matematiky v měnícím se světě (Akronym: Univerzitní výuka matematiky)

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Univerzitní výuka matematiky v měnícím se světě, 2.2 Vysokoškolské vzdělávání

Citovat

PRASAD, Sarah, Stanislav KATINA, Robin J. HENNESSY, Kieran C. MURPHY, Adrian W. BOWMAN a John L. WADDINGTON. Craniofacial Dysmorphology in 22q11.2 Deletion Syndrome by 3D Laser Surface Imaging and Geometric Morphometrics: Illuminating the Developmental Relationship to Risk for Psychosis. American Journal of Medical Genetics Part A. Malden, MA, USA: Wiley, 2015, roč. 167, č. 3, s. 529-536. ISSN 1552-4825. Dostupné z: https://dx.doi.org/10.1002/ajmg.a.36893.

@article{1226862,
   author = {Prasad, Sarah and Katina, Stanislav and Hennessy, Robin J. and Murphy, Kieran C. and Bowman, Adrian W. and Waddington, John L.},
   article_location = {Malden, MA, USA},
   article_number = {3},
   doi = {http://dx.doi.org/10.1002/ajmg.a.36893},
   keywords = {22q11.2 deletion syndrome; velocardiofacial syndrome; schizophrenia; craniofacial dysmorphology; 3D laser surface imaging; geometric morphometrics},
   language = {eng},
   issn = {1552-4825},
   journal = {American Journal of Medical Genetics Part A},
   title = {Craniofacial Dysmorphology in 22q11.2 Deletion Syndrome by 3D Laser Surface Imaging and Geometric Morphometrics: Illuminating the Developmental Relationship to Risk for Psychosis},
   url = {http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36893/abstract},
   volume = {167},
   year = {2015}
}

TY  - JOUR
ID  - 1226862
AU  - Prasad, Sarah - Katina, Stanislav - Hennessy, Robin J. - Murphy, Kieran C. - Bowman, Adrian W. - Waddington, John L.
PY  - 2015
TI  - Craniofacial Dysmorphology in 22q11.2 Deletion Syndrome by 3D Laser Surface Imaging and Geometric Morphometrics: Illuminating the Developmental Relationship to Risk for Psychosis
JF  - American Journal of Medical Genetics Part A
VL  - 167
IS  - 3
SP  - 529-536
EP  - 529-536
PB  - Wiley
SN  - 15524825
KW  - 22q11.2 deletion syndrome
KW  - velocardiofacial syndrome
KW  - schizophrenia
KW  - craniofacial dysmorphology
KW  - 3D laser surface imaging
KW  - geometric morphometrics
UR  - http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36893/abstract
L2  - http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36893/abstract
N2  - Persons with 22q11.2 deletion syndrome (22q11.2DS) are characterized inter alia by facial dysmorphology and greatly increased risk for psychotic illness. Recent studies indicate facial dysmorphology in adults with schizophrenia. This study evaluates the extent to which the facial dysmorphology of 22q11.2DS is similar to or different from that evident in schizophrenia. Twenty-one 22q11.2DS-sibling control pairs were assessed using 3Dlaser surface imaging.Geometricmorphometrics was applied to 30 anatomical landmarks, 480 geometrically homologous semi-landmarks on curves and 1720 semi-landmarks interpolated on each 3D facial surface. Principal component (PC) analysis of overall shape space indicated PC2 to strongly distinguish 22q11.2DS from controls. Visualization of PC2 indicated 22q11.2DS and schizophrenia to be similar in terms of overall widening of the upper face, lateral displacement of the eyes/ orbits, prominence of the cheeks, narrowing of the lower face, narrowing of nasal prominences and posterior displacement of the chin; they differed in terms of facial length (increased in 22q11.2DS, decreased in schizophrenia), mid-face and nasal prominences (displaced upwards and outwards in 22q11.2DS, less prominent in schizophrenia); lips (more prominent in 22q11.2DS; less prominent in schizophrenia) and mouth (open mouth posture in 22q11.2DS; closed mouth posture in schizophrenia). These findings directly implicate dysmorphogenesis in a cerebral-craniofacial domain that is common to 22q11.2DS and schizophrenia and which may repay further clinical and genetic interrogation in relation to the developmental origins of psychotic illness.
ER  -

PRASAD, Sarah, Stanislav KATINA, Robin J. HENNESSY, Kieran C. MURPHY, Adrian W. BOWMAN a John L. WADDINGTON. Craniofacial Dysmorphology in 22q11.2 Deletion Syndrome by 3D Laser Surface Imaging and Geometric Morphometrics: Illuminating the Developmental Relationship to Risk for Psychosis. \textit{American Journal of Medical Genetics Part A}. Malden, MA, USA: Wiley, 2015, roč.~167, č.~3, s.~529-536. ISSN~1552-4825. Dostupné z: https://dx.doi.org/10.1002/ajmg.a.36893.

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